FMR1 and the continuum of primary ovarian insufficiency.

  title={FMR1 and the continuum of primary ovarian insufficiency.},
  author={Shannon D. Sullivan and Corrine Kolka Welt and Stephanie L. Sherman},
  journal={Seminars in reproductive medicine},
  volume={29 4},
Spontaneous 46,XX primary ovarian insufficiency (POI) is a term that describes ovarian dysfunction resulting in a range of abnormalities, from infertility to early menopause as the end stage (overt POI). The most common known genetic cause of 46,XX POI is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene. This "premutation" is associated with overt POI (FXPOI) in ~20% of carrier women. Greater than 200 CGG copies results in methylation of… CONTINUE READING


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